8-93748712-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.639 in 151,882 control chromosomes in the GnomAD database, including 31,503 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.64 (31503 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.799

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.813 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.639 AC: 96997 AN: 151764 Hom.: 31449 Cov.: 31

Gnomad AFR AF: 0.716

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.645

Gnomad EAS AF: 0.835

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.578

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.584

Gnomad OTH AF: 0.614

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.639 AC: 97113 AN: 151882 Hom.: 31503 Cov.: 31 AF XY: 0.641 AC XY: 47596 AN XY: 74208

Gnomad4 AFR AF: 0.717

Gnomad4 AMR AF: 0.658

Gnomad4 ASJ AF: 0.645

Gnomad4 EAS AF: 0.834

Gnomad4 SAS AF: 0.623

Gnomad4 FIN AF: 0.578

Gnomad4 NFE AF: 0.584

Gnomad4 OTH AF: 0.619

Alfa AF: 0.593 Hom.: 35447

Bravo AF: 0.649

Asia WGS AF: 0.709 AC: 2468 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
Cadd	Benign	15
Dann	Benign	0.92

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3097422; hg19: chr8-94760940;